Multiple Enchondromatoses

Multiple enchondromatosis syndromes (Ollier disease and Maffucci syndrome) are congenital disorders that

FIGURE 16.4. (A,B) Excision of a parosteal osteogenic sarcoma with the use of oscillating saw. (C) The gross specimen, showing the cut surface of the fibrous cap of the lesion. (D) Histopathology reveals proliferation of spindle cells and irregular deposits of malignant bone surrounded by extensive osteoblastic activity.

FIGURE 16.4. (A,B) Excision of a parosteal osteogenic sarcoma with the use of oscillating saw. (C) The gross specimen, showing the cut surface of the fibrous cap of the lesion. (D) Histopathology reveals proliferation of spindle cells and irregular deposits of malignant bone surrounded by extensive osteoblastic activity.

FIGURE 16.5. (A) Right axial proptosis secondary to orbital chondrosarcoma. (B) Plain film showing moderately sclerotic, lobulated orbital mass (arrow). (C,D) Hypercellular hyaline cartilage composed of atypical chondrocytes clustered within lacunae. The atypical nature of the chondrocytes is better seen in (C). (Courtesy of Dr. James Allen, New Orleans, Louisiana.)

FIGURE 16.5. (A) Right axial proptosis secondary to orbital chondrosarcoma. (B) Plain film showing moderately sclerotic, lobulated orbital mass (arrow). (C,D) Hypercellular hyaline cartilage composed of atypical chondrocytes clustered within lacunae. The atypical nature of the chondrocytes is better seen in (C). (Courtesy of Dr. James Allen, New Orleans, Louisiana.)

are considered to be in the spectrum of mesodermal dysplasias.

Maffucci syndrome is a nonfamilial disease that presents with multiple enchondromas and subcutaneous hemangiomas.48'49 Ollier disease most often presents with multiple cartilaginous masses in long bones of the extremities, but hemangiomatous masses are missing. Ollier disease rarely develops in paranasal sinuses and may secondarily involve the orbit.50 Ra-dionuclide studies may be of help to diagnose Ollier disease.51

The mesodermal dysplasia syndromes are also known to develop other benign and malignant tumors including skull chondrosarcomas, low grade astrocytomas, pituitary adenomas, and carcinomas of the genitourinary and gastrointestinal tracts.52-54 In addition, orbital hemangiomas have been reported in Maffucci disease (Figure 16.6).55 These in-tracranial and orbital tumors may present with a number of ocular and orbital symptoms including proptosis, diplopia, visual loss, and cranial nerve palsies.56 Periodic orbital and neuro-ophthalmo-logic examinations and imaging studies are appropriate for the patients with Ollier disease and Maf-fucci syndrome. The treatment of these lesions includes surgery and radiotherapy.

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